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6079 Pathology

A family pedigree reveals first- and second-generation female relatives with premature menopause and male relatives with a progressive neurodegenerative disorder starting by their sixth decade. There are more males than females exhibiting mental retardation from childhood by the fourth generation. Genetic analysis of affected persons reveals CGG repeat expansions in a gene encoding for a protein that binds mRNA transcripts in neurons and shuttles them to the synapses. An abnormality involving which of the following organs is most likely to be present in affected males?

AAdrenal
BPancreas
CPituitary
DTestis
Pathology
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6082 Pathology

A 48-year-old woman has a 3-week history of fatigue as well as yellow skin and sclerae. Physical examination is unremarkable except for mild jaundice. The serum bilirubin level is 3.7 mg/dL, mostly in the unconjugated form. Liver function tests including serum AST, ALT, and alkaline phosphatase are normal. The hemoglobin level is 6.0 g/dL. After corticosteroids are administered, the jaundice resolves. Which of the following diseases is the most likely cause of hyperbilirubinemia in this patient?

AAcute hepatitis B infection
BAutoimmune hemolytic anemia
CGallstone in the common bile duct
DPrimary biliary cirrhosis
Pathology
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